| Primary Identifier | MGI:97313 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 18039 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-macromolecule adaptor activity. A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in intermediate filament bundle assembly; postsynaptic modulation of chemical synaptic transmission; and regulation of synapse maturation. Acts upstream of or within several processes, including cytoskeleton organization; neuron projection development; and regulation of axonogenesis. Located in axon and neurofilament. Is active in several cellular components, including Schaffer collateral - CA1 synapse; cholinergic synapse; and intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; limb; and peripheral nervous system ganglion. Used to study Charcot-Marie-Tooth disease type 2E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light chain). PHENOTYPE: Mice homozygous for disruptions of this gene lack neurofilaments in their axons and have motor axons that are reduced in both size and number. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
